NM_016038.4:c.258+2T>C

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HGVS Expressions

  • NG_007277.1:g.6392T>C
  • NM_016038.4:c.258+2T>C
  • NC_000007.14:g.66994210A>G

Associated Genes

SBDS Ribosome Maturation Factor
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Risk factor

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

113993993

Clinvar

3196

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
260400.1Saudi Arabia2NALikely PathogenicShwachman-Diamond Syndrome 1Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 15.02.2022

Edit History

  • Asha Deepthi: 15.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.